ClinVar Miner

Variants studied for Long QT syndrome

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
166 83 1420 857 276 1 1 2 2655

Gene and significance breakdown #

Total genes and gene combinations: 124
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
KCNH2 77 32 239 129 24 0 0 1 475
ANK2 0 4 285 155 63 0 0 1 465
CACNA1C 2 1 190 137 55 0 0 0 384
AKAP9 0 3 201 113 54 0 0 0 337
KCNQ1 78 30 121 84 26 0 0 0 315
SCN5A 1 3 99 23 2 0 0 0 128
KCNE1 1 3 50 38 21 0 1 0 108
SNTA1 0 1 50 23 14 0 0 0 79
SCN4B 0 0 47 30 0 0 0 0 77
CAV3 0 2 30 23 7 0 0 0 59
KCNJ5 0 0 20 8 4 0 0 0 32
CAV3, SSUH2 3 1 11 5 0 0 0 0 20
KCNQ1, KCNQ1OT1 2 1 6 10 5 0 0 0 20
KCNE2 0 0 13 1 0 0 0 0 14
RYR2 0 1 12 0 0 0 0 0 13
LOC110121269, SCN5A 0 0 7 3 0 0 0 0 10
UBR4 0 0 4 0 0 0 0 0 4
CIT 0 0 2 0 0 0 0 0 2
CTNNA3 0 0 2 0 0 0 0 0 2
KCNJ2 0 0 2 0 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 0 2
NOS1AP 0 0 2 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 0 2
WDR26 0 0 2 0 0 0 0 0 2
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 1 0 0 0 0 0 0 0 1
ABCF1 0 0 0 1 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EDEM2, EIF2S2, GGT7, GSS, ITCH, MAP1LC3A, MIR499A, MYH7B, NCOA6, NECAB3, PIGU, PROCR, PXMP4, RALY, SNTA1, TP53INP2, TRPC4AP, ZNF341 0 0 1 0 0 0 0 0 1
ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EIF2S2, ITCH, MAP1LC3A, NCOA6, NECAB3, PIGU, PXMP4, RALY, SNTA1, TP53INP2, ZNF341 0 0 1 0 0 0 0 0 1
AKAP8 0 0 0 1 0 0 0 0 1
AKAP9, ANKIB1, CYP51A1, GATAD1, KRIT1, LOC113748416, LRRD1, MIR1285-1 0 0 1 0 0 0 0 0 1
ANKRD31 0 0 0 1 0 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 0 1
ARL13B 0 0 0 1 0 0 0 0 1
ARVCF 0 0 0 1 0 0 0 0 1
ATL3 0 0 0 1 0 0 0 0 1
BAIAP3 0 0 0 1 0 0 0 0 1
CACNA1C, CACNA1C-IT3 0 0 1 0 0 0 0 0 1
CACNA2D1 0 0 1 0 0 0 0 0 1
CACNB2, NSUN6 0 0 1 0 0 0 0 0 1
CCDC168 0 0 0 1 0 0 0 0 1
CCN3 0 0 0 1 0 0 0 0 1
CD276 0 0 0 1 0 0 0 0 1
CELSR1 0 0 0 1 0 0 0 0 1
CTRL 0 0 0 1 0 0 0 0 1
DIP2A 0 0 0 1 0 0 0 0 1
DNA2 0 0 0 1 0 0 0 0 1
DSC2 0 0 1 0 0 0 0 0 1
DSG2 0 0 1 0 0 0 0 0 1
DSP 0 0 1 0 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 0 1
ERAP1 0 0 0 1 0 0 0 0 1
FGF2 0 0 0 1 0 0 0 0 1
FSIP2 0 0 0 1 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 0 1
GUF1 0 0 0 1 0 0 0 0 1
HK3 0 0 0 1 0 0 0 0 1
HKDC1 0 0 0 1 0 0 0 0 1
HNRNPM 0 0 0 1 0 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 0 1
INTS8 0 0 0 1 0 0 0 0 1
JPH2 0 0 0 0 1 0 0 0 1
KCNE1, KCNE2, SMIM11A 0 0 1 0 0 0 0 0 1
KCNH2, LOC110121275 1 0 0 0 0 0 0 0 1
KIF11 0 0 0 1 0 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 0 1
LRBA 0 0 0 1 0 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 0 1
MDN1 0 0 0 1 0 0 0 0 1
MKI67 0 0 0 1 0 0 0 0 1
MYBPC3 0 0 1 0 0 0 0 0 1
MYBPHL 0 0 0 1 0 0 0 0 1
MYH6 0 0 1 0 0 0 0 0 1
MYLK4 0 0 0 1 0 0 0 0 1
NET1 0 0 0 1 0 0 0 0 1
NLRP13 0 0 0 1 0 0 0 0 1
NLRX1 0 0 0 1 0 0 0 0 1
NR5A2 0 0 0 1 0 0 0 0 1
NRIP1 0 0 0 1 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 0 1
PLCB4 0 0 0 1 0 0 0 0 1
POLRMT 0 0 0 1 0 0 0 0 1
PROKR1 0 0 0 1 0 0 0 0 1
PRSS12 0 0 0 1 0 0 0 0 1
PRSS57 0 0 0 1 0 0 0 0 1
PTOV1 0 0 0 1 0 0 0 0 1
RALGAPA1 0 0 0 1 0 0 0 0 1
REM1 0 0 0 1 0 0 0 0 1
RIMS1 0 0 1 0 0 0 0 0 1
RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 1 0 0 0 0 1
SCN1B 0 0 0 1 0 0 0 0 1
SDC1 0 0 0 1 0 0 0 0 1
SHANK3 0 0 0 1 0 0 0 0 1
SIDT1 0 0 0 1 0 0 0 0 1
SIRT6 0 0 1 0 0 0 0 0 1
SLC2A5 0 0 0 0 0 1 0 0 1
SLC6A17 0 0 0 1 0 0 0 0 1
SNAPC4 0 0 0 1 0 0 0 0 1
SNAPC5 0 0 0 1 0 0 0 0 1
SND1 0 0 0 1 0 0 0 0 1
STK32B 0 0 0 1 0 0 0 0 1
SYK 0 0 0 1 0 0 0 0 1
TCTN3 0 0 0 1 0 0 0 0 1
TDRD6 0 0 0 1 0 0 0 0 1
TECRL 0 1 0 0 0 0 0 0 1
TGFBRAP1 0 0 0 1 0 0 0 0 1
TLNRD1 0 0 0 1 0 0 0 0 1
TMEM43 0 0 1 0 0 0 0 0 1
TOP2A 0 0 0 1 0 0 0 0 1
TRHDE 0 0 0 1 0 0 0 0 1
TRMU 0 0 0 1 0 0 0 0 1
TRPM4 0 0 1 0 0 0 0 0 1
UBR7 0 0 0 1 0 0 0 0 1
UPP1 0 0 0 1 0 0 0 0 1
USP19 0 0 0 1 0 0 0 0 1
VCL 0 0 1 0 0 0 0 0 1
VSX1 0 0 0 1 0 0 0 0 1
WDR25 0 0 0 1 0 0 0 0 1
WWC2 0 0 0 1 0 0 0 0 1
YME1L1 0 0 0 1 0 0 0 0 1
ZNF174 0 0 0 1 0 0 0 0 1
ZNF341 0 0 0 1 0 0 0 0 1
ZNF862 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 156 50 879 550 249 0 0 0 1884
Illumina Clinical Services Laboratory,Illumina 0 1 437 223 24 0 0 0 685
Medical Research Institute,Tokyo Medical and Dental University 0 17 28 74 0 1 0 0 120
CSER_CC_NCGL; University of Washington Medical Center 1 1 47 9 0 0 0 0 58
Blueprint Genetics, 1 3 41 2 0 0 1 0 48
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 3 18 0 1 0 0 0 28
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 10 10 4 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 11 3 0 0 2 0 0 0 16
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 4 3 0 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 0 0 0 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 1 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1

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